Familial carotid body paragangliomas and sensorineural hearing-loss: a newsyndrome

Background: Carotid body paragangliomas are rare tumors that are sometimes familial, the transmission of which is thought to be by genomic imprinting. We have treated a family who exhibited co-inheritance of carotid body para ganglioma and sensorineural hearing-loss, a relationship that has not been previously reported. Methods: We studied a large Australian family who exhi bited familial carotid body paragangliomas, many of whose members also suff ered tinnitus or hearing-loss. This relationship was examined by reviewing the medical records of family members with confirmed tumors, carrying out n eck ultrasonic scanning or computed tomography on their relatives to look f or previously unrecognized tumors, and arranging audiometric testing. This information was used to characterize the type of hearing-loss present in th is family and to construct a pedigree for the two traits. Results: The hear ing-loss observed in this family was sensorineural in character. Of 15 fami ly members studied over four generations, eight were confirmed positive for both carotid body paraganglioma and sensorineural hearing-loss. two for th e tumor only (one of whom did not have his hearing assessed) and one for he aring-loss alone. Four family members were negative for both traits. Conclu sions: The pedigree provides evidence of a previously undescribed associati on between familial carotid body paraganglioma and sensorineural hearing-lo ss, a combination that appears to be co-inherited in this family. (C) 1998 The International Society for Cardiovascular Surgery. Published by Elsevier Science Ltd. All rights reserved.